Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C2931038
Disease: Pancreatic carcinoma, familial
Pancreatic carcinoma, familial
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 43 9 0.020 None 1.000 2 2016 2017
CUI: C4277690
Disease: Ciliopathies
Ciliopathies
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 241 7 0.320 None 1.000 2 2015 2019
CUI: C4551631
Disease: Cystic liver disease
Cystic liver disease
disease Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms Disease or Syndrome 19 0.010 None 1.000 1 2019 2019
CUI: C4544985
Disease: Fibropolycystic disease of liver
Fibropolycystic disease of liver
phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Disease or Syndrome 2 0.010 None 1.000 1 2019 2019
CUI: C4316799
Disease: Multiple biliary hamartomas
Multiple biliary hamartomas
disease Digestive System Diseases; Neoplasms Neoplastic Process 4 0.010 None 1.000 1 2015 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
disease Digestive System Diseases; Neoplasms Neoplastic Process 2832 275 0.010 None 1.000 1 1984 1984
CUI: C0878500
Disease: Intraepithelial Neoplasia
Intraepithelial Neoplasia
disease Neoplasms Neoplastic Process 186 0.010 None 1.000 1 2016 2016
Malignant neoplasm of colon and/or rectum
disease Neoplastic Process 3669 502 0.010 None 1.000 1 2011 2011
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4388 1168 0.010 None 1.000 1 2011 2011
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
phenotype Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 6243 355 0.010 None 1.000 1 2005 2005
CUI: C0442872
Disease: Multiple cysts
Multiple cysts
disease Pathological Conditions, Signs and Symptoms; Neoplasms Acquired Abnormality 3 0.010 None 1.000 1 2012 2012
Nephronophthisis - medullary cystic disease
disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome; Congenital Abnormality 2 0.010 None 1.000 1 2008 2008
CUI: C0431128
Disease: Papillary craniopharyngioma
Papillary craniopharyngioma
disease Neoplasms Neoplastic Process 65 2 0.010 None 1.000 1 2019 2019
CUI: C4722328
Disease: Hereditary Prostate Carcinoma
Hereditary Prostate Carcinoma
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 45 12 0.010 None 1.000 1 2011 2011
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 4502 1082 0.010 None 1.000 1 2011 2011
CUI: C1691228
Disease: Cystic Kidney Diseases
Cystic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 50 0.010 None 1.000 1 2019 2019
CUI: C3805083
Disease: Portal fibrosis
Portal fibrosis
phenotype Digestive System Diseases Disease or Syndrome 15 0.010 None 1.000 1 2019 2019
CUI: C1257796
Disease: Choledochal Cyst, Type II
Choledochal Cyst, Type II
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Congenital Abnormality 5 0.300 None 1.000 1 2008 2008
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases
group Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome 1074 306 0.010 None 1.000 1 2010 2010
CUI: C1535939
Disease: Pneumocystis jiroveci pneumonia
Pneumocystis jiroveci pneumonia
disease Infections; Respiratory Tract Diseases Disease or Syndrome 180 5 0.010 None 1.000 1 2019 2019
CUI: C1397307
Disease: Cardiac fibrosis
Cardiac fibrosis
disease Disease or Syndrome 297 3 0.010 None 1.000 1 2017 2017
CUI: C2931456
Disease: Prostate cancer, familial
Prostate cancer, familial
disease Neoplasms; Male Urogenital Diseases Neoplastic Process 116 25 0.010 None 1.000 1 2011 2011
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process 970 22 0.010 None 1.000 1 2017 2017
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Neoplastic Process 338 36 0.010 None 1.000 1 1988 1988
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine
disease Digestive System Diseases; Neoplasms Neoplastic Process 543 432 0.010 None 1.000 1 2011 2011